Key Points When Interpreting Genetic Test Results
Possible Outcomes of Cardiovascular Genetic Testing (Autosomal Dominant Conditions)
Clinical Presentation of Person Tested | Genetic Testing Result | Interpretation | Management | Recommendations for Family Members |
---|---|---|---|---|
Affected | Positive | True positive. Disease-causing variant identified. Test confirms clinical diagnosis or clinical suspicion. | Follow gene-specific guidelines if they exist. Otherwise, follow guidelines for the clinical condition. | Targeted genetic testing of first-degree family members is recommended. |
Affected | Negative | The result does not rule out the diagnosis or a genetic cause for the condition. | Follow guidelines for the clinical condition. | Genetic testing of unaffected family members not recommended. Cardiac screening may be recommended. |
Affected | VUS | The result, at this time, is uninformative | Do not use in clinical decision-making. | Testing of family members for VUS is not recommended. |
Unaffected | Positive | Patient is at risk for developing cardiac disease. | Follow gene-specific guidelines if they exist. Otherwise, follow guidelines for the clinical condition. | Targeted genetic testing of first-degree family members is recommended. |
Unaffected | Negative for known, pathogenic familial variant | True negative. Patient is likely not at increased risk. | Increased screening based on the familial variant is not recommended. | Patient’s children are not at increased risk. Other family members at-risk should be offered genetic testing. |
Unaffected | Negative (without a known familial variant) | Genetic cause cannot be ruled out. | Follow screening guidelines based on family history. | Other family members at-risk should be offered genetic testing. |
Unaffected | VUS | The result, at this time, is uninformative. | Follow screening guidelines based on family history | Testing of family members for VUS is not recommended. |
For more information on cardiac genetic testing, see:
Updated August 2023